Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.040 1.000 4 2011 2017
dbSNP: rs1019827482
rs1019827482
1 1.000 6 159692550 missense variant T/C snv 6.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs104893877
rs104893877
59 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs1060501198
rs1060501198
3 0.925 0.040 17 7674900 missense variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs113994095
rs113994095
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.010 1.000 1 2014 2014
dbSNP: rs121909329
rs121909329
VCP
11 0.763 0.200 9 35065363 missense variant C/A;G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs121912438
rs121912438
58 0.605 0.520 21 31667299 missense variant G/A;C;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1261281771
rs1261281771
2 0.925 0.080 6 159688191 missense variant C/G snv 7.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1314736087
rs1314736087
5 0.851 0.120 8 109575782 frameshift variant GA/- delins 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs151191365
rs151191365
DLD
1 1.000 7 107893213 missense variant A/G;T snv 4.8E-05; 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs34424986
rs34424986
10 0.752 0.200 6 161785820 missense variant G/A;T snv 1.9E-03; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs397514671
rs397514671
2 0.925 0.120 11 4083309 missense variant C/T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs431905511
rs431905511
9 0.827 0.080 4 89828154 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs63750800
rs63750800
3 0.882 0.080 14 73173585 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs63751273
rs63751273
42 0.645 0.280 17 46010389 missense variant C/T snv 0.010 1.000 1 2020 2020
dbSNP: rs761649878
rs761649878
2 0.925 0.080 15 89318738 missense variant G/C snv 1.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs763452636
rs763452636
DLD
1 1.000 7 107905413 missense variant C/G snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs781908532
rs781908532
8 0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs876658902
rs876658902
3 0.925 0.040 17 7676182 missense variant C/T snv 0.010 1.000 1 2007 2007
dbSNP: rs940780088
rs940780088
1 1.000 12 117330477 missense variant C/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2007 2007